Gene DPYS Details
It offers a comprehensive overview of all clinically relevant variants linked to a specified gene. It provides detailed metrics for each variant, including chromosomal position, HGVS c. and p. notation, allele frequencies, carrier rates, and estimated metrics for at-risk couples. By combining gene-level statistics with specific variant-level data, this page enables an in-depth analysis of how particular genes contribute to disease, thus supporting both clinical interpretation and research efforts.
Gene: DPYS
Disorder: Dihydropyrimidinase deficiency
Allele Frequency: 0.00335008
Carrier Rate: 0.00667772
Max At-Risk Couples rate: 0.0000446
The table below lists all clinically relevant variants identified in the DPYS gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 294 |
105393518 |
DPYS |
NM_001385.3:c.1468C>T |
NP_001376.1:p.Arg490Cys |
2 |
0.000838% |
| 295 |
105441818 |
DPYS |
NM_001385.3:c.905G>A |
NP_001376.1:p.Arg302Gln |
2 |
0.000838% |
| 759 |
105405032 |
DPYS |
NM_001385.3:c.1423C>T |
NP_001376.1:p.Arg475Ter |
1 |
0.000419% |
| 760 |
105405200 |
DPYS |
NM_001385.3:c.1254_1255delTC |
NP_001376.1:p.His419Serfs*5 |
1 |
0.000419% |
| 761 |
105436573 |
DPYS |
NM_001385.3:c.1137C>A |
NP_001376.1:p.Ser379Arg |
1 |
0.000419% |
| 762 |
105463537 |
DPYS |
NM_001385.3:c.360G>A |
NP_001376.1:p.Trp120Ter |
1 |
0.000419% |
